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Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Eichstaedt, CA; Bikou, O; Sommer, N; Schermuly, RT; Pullamsetti, SS; Weissmann, N; Harbaum, L; Tabeling, C; Wißmüller, M; Foris, V; Kuebler, WM; Hinderhofer, K; Olschewski, A; Kwapiszewska, G.
[Genetic diagnostics and molecular approaches in pulmonary arterial hypertension].
Pneumologie. 2023; 77(11): 862-870.
Doi: 10.1055/a-2145-4663
Web of Science
PubMed
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- Co-authors Med Uni Graz
- Foris Vasile
- Kwapiszewska-Marsh Grazyna
- Olschewski Andrea
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- Abstract:
- The recently published new European guidelines for diagnosis and treatment of pulmonary hypertension now offer the so far most extensive description of genetic testing and counselling for pulmonary arterial hypertension patients. In addition, the importance of a clinical screening of healthy mutation carriers is highlighted as well as the genetic testing of patients with a suspicion of pulmonary veno-occlusive disease. We frame the respective parts of the guidelines on genetic testing and counselling in the context of recent data and provide comments. Finally, we give an outlook on novel molecular approaches starting from Sotatercept, addressing ion channels and novel therapeutic developments.
- Find related publications in this database (Keywords)
- genetics
- pulmonary arterial hypertension
- molecular genetic diagnostics
- genetic counselling